ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.953A>T (p.His318Leu)

dbSNP: rs2138661790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003448410 SCV004175932 uncertain significance FOXG1 disorder 2023-10-13 reviewed by expert panel curation The p.His318Leu variant in FOXG1 is absent from gnomAD (PM2_supporting). The p.His318Leu variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). Computational prediction analysis tools are inconclusive for this variant. In summary, the p.His318Leu variant in FOXG1 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BS2_supporting).
Labcorp Genetics (formerly Invitae), Labcorp RCV001399568 SCV001601358 likely benign Rett syndrome, congenital variant 2020-06-06 criteria provided, single submitter clinical testing
GeneDx RCV001762669 SCV002000286 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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